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496 results for your search :
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Clinical, molecular and functional characterization of MSMO1 deficiency
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Characterisation of patients with de novo variants in RBBP4 gene: description of a new NuRDopathy
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Somatic mutations and tissue methylation pattern on patients with neural tube defects
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New variants of ACVRL1 in Galen aneuvrysmal malformations
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JARDIN project: The Joint Action on integration of ERNs into national healthcare Systems
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International Symposium Rare Disease Day 2024
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Epilepsy and other neurological signs (hemiplegic migraine) in patients with ZTTK syndrome
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SNX14-related spinocerebellar ataxia
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HCFC1 associated phenotypes and X-inactivation pattern
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Biallelic missense variants in CSMD2 are associated with a neurodevelopmental disease and epilepsy